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Publications by M Caniglia

Genetic Study of a New X-Linked Recessive Immunodeficiency Syndrome.

Journal of Clinical Investigation

English

Related publications

X Linked Recessive Thrombocytopenia.

Journal of Medical Genetics

English

Confirmation of a Genetic Locus for X-Linked Recessive High Myopia Outside MYP1

Journal of Human Genetics

English

A Novel X-Linked Combined Immunodeficiency Disease.

Journal of Clinical Investigation

English

New Autosomal Recessive Faciodigitogenital Syndrome.

Journal of Medical Genetics

English

Missense Variant in CCDC22 Causes X-Linked Recessive Intellectual Disability With Features of Ritscher-Schinzel/3c Syndrome

European Journal of Human Genetics

English

X-Linked Parkinsonism-Spasticity Syndrome

English

375 Modelling and Understanding Pathomechanisms of X-Linked Recessive Ichthyosis in Vitro

Journal of Investigative Dermatology

Molecular Biology

English

X-Linked Lymphoproliferative Syndrome in Mainland China: Review of Clinical, Genetic, and Immunological Characteristic

European Journal of Pediatrics

English

The X Linked Recessive Form of XY Gonadal Dysgenesis With a High Incidence of Gonadal Germ Cell Tumours: Clinical and Genetic Studies.

Journal of Medical Genetics

English